Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Bcar3'

259018

Institutional Source

Beutler Lab

Gene Symbol

Bcar3

Ensembl Gene

ENSMUSG00000028121

Gene Name

breast cancer anti-estrogen resistance 3

Synonyms

AND-34

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122213406-122323840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122318645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 678 (Q678K)

Ref Sequence

ENSEMBL: ENSMUSP00000029766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029766] [ENSMUST00000199344]

AlphaFold

Q9QZK2

Predicted Effect

probably benign
Transcript: ENSMUST00000029766
AA Change: Q678K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: Q678K

Domain	Start	End	E-Value	Type
low complexity region	126	145	N/A	INTRINSIC
SH2	146	234	3.17e-21	SMART
low complexity region	395	406	N/A	INTRINSIC
RasGEF	539	814	2.55e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197959

Predicted Effect

probably benign
Transcript: ENSMUST00000199344

SMART Domains

Protein: ENSMUSP00000143711
Gene: ENSMUSG00000028121

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
PDB:3T6A\|D	149	261	3e-61	PDB
SCOP:d1bkds_	168	260	1e-7	SMART
Blast:RasGEF	190	261	2e-42	BLAST

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,450,718 (GRCm39)	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,225,892 (GRCm39)	V353I	possibly damaging	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,668,607 (GRCm39)	I453V	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Stat6	G	A	10: 127,488,091 (GRCm39)	V282I	possibly damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd4	C	A	9: 60,301,670 (GRCm39)	K208N	probably benign	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	Het

Other mutations in Bcar3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Bcar3	APN	3	122,306,585 (GRCm39)	missense	probably benign	0.36
IGL01372:Bcar3	APN	3	122,316,943 (GRCm39)	missense	probably damaging	1.00
IGL02681:Bcar3	APN	3	122,306,417 (GRCm39)	splice site	probably null
IGL03403:Bcar3	APN	3	122,306,618 (GRCm39)	missense	probably benign	0.01
R0408:Bcar3	UTSW	3	122,302,033 (GRCm39)	missense	probably damaging	0.98
R0531:Bcar3	UTSW	3	122,220,148 (GRCm39)	missense	probably benign	0.00
R0798:Bcar3	UTSW	3	122,318,948 (GRCm39)	missense	probably benign	0.01
R1445:Bcar3	UTSW	3	122,316,840 (GRCm39)	missense	probably damaging	0.98
R1892:Bcar3	UTSW	3	122,301,785 (GRCm39)	missense	probably benign	0.00
R2138:Bcar3	UTSW	3	122,306,645 (GRCm39)	missense	probably damaging	1.00
R3237:Bcar3	UTSW	3	122,318,645 (GRCm39)	missense	probably benign	0.02
R3832:Bcar3	UTSW	3	122,220,298 (GRCm39)	missense	probably damaging	1.00
R4801:Bcar3	UTSW	3	122,323,243 (GRCm39)	missense	probably benign	0.22
R4802:Bcar3	UTSW	3	122,323,243 (GRCm39)	missense	probably benign	0.22
R5342:Bcar3	UTSW	3	122,220,298 (GRCm39)	missense	probably damaging	1.00
R5364:Bcar3	UTSW	3	122,323,281 (GRCm39)	missense	probably benign	0.41
R5560:Bcar3	UTSW	3	122,220,224 (GRCm39)	missense	possibly damaging	0.92
R5714:Bcar3	UTSW	3	122,248,736 (GRCm39)	missense	possibly damaging	0.88
R5716:Bcar3	UTSW	3	122,306,564 (GRCm39)	missense	probably damaging	1.00
R5944:Bcar3	UTSW	3	122,316,932 (GRCm39)	missense	probably benign
R6478:Bcar3	UTSW	3	122,220,225 (GRCm39)	missense	probably benign	0.04
R6615:Bcar3	UTSW	3	122,220,282 (GRCm39)	missense	probably benign	0.00
R6996:Bcar3	UTSW	3	122,302,033 (GRCm39)	missense	possibly damaging	0.95
R7272:Bcar3	UTSW	3	122,302,045 (GRCm39)	missense	possibly damaging	0.92
R7308:Bcar3	UTSW	3	122,302,142 (GRCm39)	missense	probably benign	0.00
R7353:Bcar3	UTSW	3	122,306,341 (GRCm39)	missense	probably benign	0.00
R7465:Bcar3	UTSW	3	122,316,879 (GRCm39)	missense	probably benign	0.13
R7816:Bcar3	UTSW	3	122,220,343 (GRCm39)	missense	probably benign	0.00
R7899:Bcar3	UTSW	3	122,301,902 (GRCm39)	missense	probably damaging	0.97
R8066:Bcar3	UTSW	3	122,318,573 (GRCm39)	missense	probably damaging	1.00
R8165:Bcar3	UTSW	3	122,304,805 (GRCm39)	unclassified	probably benign
R8285:Bcar3	UTSW	3	122,306,383 (GRCm39)	missense	probably benign	0.00
R9224:Bcar3	UTSW	3	122,319,091 (GRCm39)	missense	probably damaging	1.00
R9340:Bcar3	UTSW	3	122,298,462 (GRCm39)	start gained	probably benign
R9480:Bcar3	UTSW	3	122,277,618 (GRCm39)	nonsense	probably null
R9631:Bcar3	UTSW	3	122,301,801 (GRCm39)	missense	possibly damaging	0.91
Z1177:Bcar3	UTSW	3	122,298,667 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCTTCATGATCATCTGTCAC -3'
(R):5'- ACACGCTGCAGAGCTATATGAG -3'

Sequencing Primer
(F):5'- GTCACCTGTTCCAAAACTTTAGCAG -3'
(R):5'- AGGGCCACTGTGTGAGC -3'

Posted On

2015-01-23